Article
Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society - 1 Aug 2015
Li Hongzhuo, Ma Liang, Wang Baozhu, Cui Yun, Xiao Tao
Abstract excerpt
PURPOSE: To identify potential disease-causing mutation in the COL2A1 gene in a Chinese family with autosomal dominant spondyloepiphyseal dysplasia congenita (SEDC) and to analyze the phenotype-genotype correlation. METHODS: Complete physical and radiographic examinations of four affected individuals from SEDC family were conducted. Genomic DNA were isolated from peripheral blood leukocytes. All 54 exons and...
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